ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.172+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1377640182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002222278 SCV002499670 pathogenic Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 2022-03-07 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP3

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